Fluorometric measurement of alpha-L-iduronidase activity using 4-methylumbelliferyl-alpha-L-iduronide.
Using 4-methylumbelliferyl-alpha-L-iduronide as a substrate, alpha-L-iduronidase activity was measured in leukocytes and in lymphoblastoid cells obtained from patients with alpha-L-iduronidase deficiency and from obligate heterozygotes for this disease. There was complete discrimination between alpha-L-iduronide in leukocytes and in lymphoblastoid cells from the patients and controls. However, overlap was observed between values of the activity in the obligate heterozygotes and those in the controls. 4-Methylumbelliferyl-alpha-L-iduronidase activity because of greater sensitivity, easier assay procedure and shorter incubation period.
D005260:Female; D005470:Fluorometry; D006026:Glycoside Hydrolases / Q000097:blood*; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives; D007067:Iduronic Acid / Q000031:analogs & derivatives; D007068:Iduronidase / Q000097:blood* / Q000172:deficiency; D008297:Male; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D008059:Mucopolysaccharidosis I / Q000201:enzymology*; D014468:Umbelliferones
D014468:Umbelliferones; D007067:Iduronic Acid; D006923:Hymecromone; C018343:4-methylumbelliferyl iduronide; D006026:Glycoside Hydrolases; D007068:Iduronidase